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    Phenotype expression in women with CMT1X.

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    Authors
    Siskind, Carly E
    Murphy, Sinéad M
    Ovens, Richard
    Polke, James
    Reilly, Mary M
    Shy, Michael E
    Affiliation
    Department of Neurology, Wayne State University, Detroit, MI 48201, USA. csiskind@med.wayne.edu
    Issue Date
    2011-06
    MeSH
    Adolescent
    Adult
    Aged
    Aged, 80 and over
    Charcot-Marie-Tooth Disease
    Child
    Electrophysiology
    Female
    Genetic Diseases, X-Linked
    Humans
    Middle Aged
    Neural Conduction
    Pedigree
    Phenotype
    X Chromosome Inactivation
    Young Adult
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    Citation
    Phenotype expression in women with CMT1X. 2011, 16 (2):102-7 J. Peripher. Nerv. Syst.
    Publisher
    Journal of the peripheral nervous system : JPNS
    Journal
    Journal of the peripheral nervous system : JPNS
    URI
    http://hdl.handle.net/10147/254553
    DOI
    10.1111/j.1529-8027.2011.00332.x
    PubMed ID
    21692908
    Abstract
    Charcot-Marie-Tooth disease type 1X (CMT1X) is the second most common inherited peripheral neuropathy. Women with CMT1X typically have a less severe phenotype than men, perhaps because of X-inactivation patterns. Our objective was to determine the phenotype of women with CMT1X and whether X-inactivation patterns in white blood cells (WBCs) differ between females with CMT1X and controls. Thirty-one women with CMT1X were evaluated using the CMT neuropathy score (CMTNS) and the CMT symptom score in cross-sectional and longitudinal analyses. Lower scores correspond to less disability. WBCs were analyzed for X-inactivation pattern by androgen receptor X-inactivation assay in 14 patients and 23 controls. The 31 women's mean CMTNS was 8.35. Two-thirds of the cohort had a mild CMTNS (mean 4.85) and one-third had a moderate CMTNS (mean 14.73). Three patients had a CMTNS of 0. The pattern of X-inactivation did not differ between the affected and control groups. Women with CMT1X presented with variable impairment independent of age, type of mutation, or location of mutation. No evidence supported the presence of a gap junction beta-1 (GJB1) mutation affecting the pattern of X-inactivation in blood. Further studies are planned to determine whether X-inactivation is the mechanism for CMT1X females' variable phenotypes.
    Item Type
    Article
    Language
    en
    ISSN
    1529-8027
    ae974a485f413a2113503eed53cd6c53
    10.1111/j.1529-8027.2011.00332.x
    Scopus Count
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    Tallaght University Hospital

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